National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

SAPHO syndrome



Other Names:
Acquired hyperostosis syndrome; Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis; Synovitis acne pustulosis hyperostosis osteitis
Categories:

SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.[1]
Last updated: 2/4/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Bone pain 0002653
Chest pain 0100749
Craniofacial osteosclerosis 0005464
Enthesitis 0100686
Hyperostosis
Bone overgrowth
0100774
Neoplasm of the skeletal system
Skeletal tumor
0010622
Osteolysis
Breakdown of bone
0002797
Synovitis 0100769
30%-79% of people have these symptoms
Abnormality of the sacroiliac joint 0100781
Acne 0001061
Arthritis
Joint inflammation
0001369
Edema
Fluid retention
Water retention
[ more ]
0000969
Osteomyelitis
Bone infection
0002754
Palmoplantar pustulosis 0100847
Psoriasiform dermatitis 0003765
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Chronic diarrhea 0002028
Cranial nerve paralysis 0006824
Inflammation of the large intestine 0002037
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Recurrent skin infections
Skin infections, recurrent
0001581
Skin rash 0000988
Steatorrhea
Fat in feces
0002570
Vasculitis
Inflammation of blood vessel
0002633
Venous thrombosis
Blood clot in vein
0004936
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Last updated: 7/1/2020

There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne.

Other drugs that may be used include:

Last updated: 2/4/2014

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes infectious osteomyelitis or arthritis, Langerhans cell histiocytosis, and bone tumors such as Ewing sarcoma, osteoblastoma, and osteoid osteoma. Hypophosphatasia may mimic the bone phenotype of SAPHO syndrome.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SAPHO syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are there any specialists in the San Diego, CA, area for Sapho Syndrome? Where can I find information on recommended treatments? Any information would be helpful. See answer



  1. SAPHO syndrome. DermNet NZ. December 29, 2013; http://dermnetnz.org/systemic/sapho.html. Accessed 2/4/2014.